ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA288682
Gene: ALDH7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Ile125Val
CA288681
NM_001182.5:c.373A>G